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FLASH GENE
Symbol PPFIA1 contributors: mct/npt - updated : 27-02-2024
HGNC name protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1
HGNC id 9245
Location 11q13.3      Physical location : 70.116.822 - 70.230.500
Synonym name
  • LAR-interacting protein 1
  • PTPRF interacting protein alpha 1
    • Synonym symbol(s) LIP-1, LIP1, LIPRIN, MGC26800, FLJ41337, FLJ42630, FLJ43474
    DNA
    TYPE functioning gene
    STRUCTURE 113.71 kb     32 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Map cen - D11S913 - D11S1337 - ALDH3B2 - CCND1 - GALE - PPFIA1 - D11S1314 - D11S4184 - D11S916 - qter
    Authors Gene Map (98)
    RNA
    TRANSCRIPTS type messenger
    text 5 alternatively spliced cassette exons (exons 10, 18, 24, 25, and 31) (Zurner 2009)
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    26 - 4051 - 1185 - 2021 33761347
    28 - 5240 - 1202 - 2021 33761347
    32 - 5435 - 1267 - 2021 33761347
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart     Homo sapiens
    Digestiveliver     Homo sapiens
    Lymphoid/Immunespleen     Homo sapiens
    Nervousbrainhindbraincerebellum   Homo sapiens
    Olfactory (smell)olfactory bulb     Homo sapiens
    Reproductivemale systemtestis    Homo sapiens
    Respiratorylung     Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularsmooth    Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • N-terminal region predicted to form coiled-coil structures
  • three C-terminal SAM (sterile-á-motif) domains that constitute the LH (liprin homology) region, and PDZ interaction motif mediating the binding to the adaptor protein GRIP (Zurner 2009)
    • mono polymer homomer , dimer
    HOMOLOGY
    interspecies ortholog to C.elegans celiprin alpha
    intraspecies homolog to LAR-interacting protein LIP1 alpha
    homolog to PPFIA4, PPFIA3, PPFIA2
    Homologene
    FAMILY
  • liprin family
    • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    text localized in axons and dendrites, in agreement with their association with pre- and postsynaptic protein complexes (Zurner 2009)
    basic FUNCTION
  • protein tyrosine phosphatase, receptor type, may regulate the disassembly of focal adhesions
  • may act as an invasion inhibitor in head and neck squamous cell carcinoma
  • plays a crucial role in synapse assembly and function (Zurner 2009)
  • . play three important roles: first, in the assembly, organization, and function of presynaptic active zones; second, in the development and maintenance of dendritic spines and excitatory synapses; and third, in vesicular trafficking (Zurner 2009)
  • PHLDB1 and PHLDB2 are required, together with PPFIA1, for effective migration and tumor cell invasion, and do so by stabilizing the protrusive activity at the cell front
  • regulates the migration and invasion of human breast cancer cells
  • affects cell migration and invasion by regulating the organization of lamellipodia and invadopodia, two structures relevant to cell invasion
  • is likely involved in the organization of the postsynaptic machinery
  • PPFIA1 and ALG3 may play roles in oncogene expression in in head and neck squamous cell carcinoma (HNSCC)
  • RORB1, PPFIA1 and KCNAB2 are differentially spliced in the foveal, parafoveal and macular regions
  • plays an important role as a regulator of cell motility and tumor cell invasion and is frequently amplified in breast cancer
  • is an important contributor to oncogenic RAS/MAPK signaling
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • binding membrane distal D2 PTPase domain of the LAR family of PTPases (PTPRD, PTPRF, PTPRS) through the LH domain
  • PPFIA1 functioned with PPP2CA to promote the dephosphorylation of KIF7, triggering KIF7 localization to the tips of primary cilia and promoting GLI transcriptional activity
  • CDK5-dependent phosphorylation of PPFIA1 is important for the postsynaptic organization during activity-dependent synapse development
  • is a novel regulator of CD82, linking PPFIA1 to the cancer cell invasion and metastasis pathways
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral   amplification    
    in head and neck squamous cell carcinoma
    tumoral   amplification    
    in breast cancer, coamplified with CCND1 (Dancau 2010)
    tumoral     --over  
    higher in colorectal cancers (CRCs) tissue samples than in normal colon tissue
    tumoral     --over  
    in breast cancer was associated with worse prognosis
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    cancer  
    status of PPFIA1 may assist in predicting drug responses in cancer cells in a context-dependent manner
    ANIMAL & CELL MODELS